Severe Congenital Neutropenia Type 3, Autosomal Recessive

Preferred Label : Severe Congenital Neutropenia Type 3, Autosomal Recessive;

NCIt synonyms : Neutropenia, Severe Congenital, 3, Autosomal Recessive; Kostmann Syndrome; Autosomal Recessive SCN, Type 3;

NCIt related terms : Kostmann neutropenia; Kostmann disease;

NCIt definition : Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by HCLS1-associated protein X-1 (HAX1) mutations.;

NCI Metathesaurus CUI : CL939667;

Codes from synonyms : CDR0000644749; CDR0000644750; CDR0000644747;

Details

Origin ID

C166153;

UMLS CUI

C5235141;

Automatic exact mappings (from CISMeF team)
- severe congenital neutropenia 3 [DO Concept]
Currated CISMeF NLP mapping
- Infantile genetic agranulocytosis [MedDRA Preferred Term]
- Kostmann syndrome [ORDO Disease]
- Kostmann syndrome [PASCAL descriptor]
- Kostmann syndrome [ICD-11 More detail]
- Kostmann syndrome (disorder) [SNOMED CT concept]
- Kostmann's syndrome [MedDRA LLT]
- Neutropenia, severe congenital, 3, autosomal recessive [OMIM Phenotype]
- neutropenia, severe congenital, autosomal recessive 3 [MeSH Supplementary Concept]
- neutropenia, severe congenital, autosomal recessive 3 [MeSH concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kostmann syndrome (disorder) [SNOMED CT concept]
- Neutropenia, severe congenital, 3, autosomal recessive [OMIM Phenotype]
- neutropenia, severe congenital, autosomal recessive 3 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Autosomal recessive severe congenital neutropenia [ORDO Disease]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- HAX1 Gene [NCIt concept]

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